BAIT

MN1

MGCR, MGCR1, MGCR1-PEN, dJ353E16.2, CTA-437G10__B.1
meningioma (disrupted in balanced translocation) 1
GO Process (0)
GO Function (0)
GO Component (0)
Homo sapiens
PREY

PRKDC

DNA-PKcs, DNAPK, DNPK1, HYRC, HYRC1, IMD26, XRCC7, p350
protein kinase, DNA-activated, catalytic polypeptide
Homo sapiens

Affinity Capture-MS

An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and the associated interaction partner is identified by mass spectrometric methods.

Publication

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N

MN1 was originally identified as a tumor-suppressor gene. Knockout mouse studies have suggested that Mn1 is associated with craniofacial development. However, no MN1-related phenotypes have been established in humans. Here, we report on three individuals who have de novo MN1 variants that lead to a protein lacking the carboxyl (C) terminus and who presented with severe developmental delay, craniofacial abnormalities ... [more]

Am. J. Hum. Genet. Dec. 02, 2019; 106(1);13-25 [Pubmed: 31839203]

Throughput

  • High Throughput

Curated By

  • BioGRID